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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for MTHFD1 |
Basic gene info. | Gene symbol | MTHFD1 |
Gene name | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | |
Synonyms | MTHFC|MTHFD | |
Cytomap | UCSC genome browser: 14q24 | |
Genomic location | chr14 :64854758-64926725 | |
Type of gene | protein-coding | |
RefGenes | NM_005956.3, | |
Ensembl id | ENSG00000100714 | |
Description | 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetaseC-1-tetrahydrofolate synthase, cytoplasmicC1-THF synthasecytoplasmic C-1-tetrahydrofolate synthase | |
Modification date | 20141207 | |
dbXrefs | MIM : 172460 | |
HGNC : HGNC | ||
Ensembl : ENSG00000100714 | ||
HPRD : 01403 | ||
Vega : OTTHUMG00000141309 | ||
Protein | UniProt: P11586 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MTHFD1 | |
BioGPS: 4522 | ||
Gene Expression Atlas: ENSG00000100714 | ||
The Human Protein Atlas: ENSG00000100714 | ||
Pathway | NCI Pathway Interaction Database: MTHFD1 | |
KEGG: MTHFD1 | ||
REACTOME: MTHFD1 | ||
ConsensusPathDB | ||
Pathway Commons: MTHFD1 | ||
Metabolism | MetaCyc: MTHFD1 | |
HUMANCyc: MTHFD1 | ||
Regulation | Ensembl's Regulation: ENSG00000100714 | |
miRBase: chr14 :64,854,758-64,926,725 | ||
TargetScan: NM_005956 | ||
cisRED: ENSG00000100714 | ||
Context | iHOP: MTHFD1 | |
cancer metabolism search in PubMed: MTHFD1 | ||
UCL Cancer Institute: MTHFD1 | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of MTHFD1 in cancer cell metabolism | 1. Cheng TYD, Makar KW, Neuhouser ML, Miller JW, Song X, et al. (2015) Folate‐mediated one‐carbon metabolism genes and interactions with nutritional factors on colorectal cancer risk: Women's Health Initiative Observational Study. Cancer. go to article |
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Phenotypic Information for MTHFD1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: MTHFD1 |
Familial Cancer Database: MTHFD1 |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
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KEGG_GLYOXYLATE_AND_DICARBOXYLATE_METABOLISM REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS |
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OMIM | 114500; phenotype. 172460; gene+phenotype. 601634; phenotype. |
Orphanet | 268377; Total spina bifida aperta. 268384; Thoracolumbosacral spina bifida aperta. 268388; Lumbosacral spina bifida aperta. 268392; Cervical spina bifida aperta. 268397; Cervicothoracic spina bifida aperta. 268740; Upper thoracic spina bifida aperta. 268748; Total spina bifida cystica. 268752; Thoracolumbosacral spina bifida cystica. 268758; Lumbosacral spina bifida cystica. 268762; Cervical spina bifida cystica. 268766; Cervicothoracic spina bifida cystica. 268770; Upper thoracic spina bifida cystica. |
Disease | KEGG Disease: MTHFD1 |
MedGen: MTHFD1 (Human Medical Genetics with Condition) | |
ClinVar: MTHFD1 | |
Phenotype | MGI: MTHFD1 (International Mouse Phenotyping Consortium) |
PhenomicDB: MTHFD1 |
Mutations for MTHFD1 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows MTHFD1 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BG955100 | MTHFD1 | 11 | 197 | 14 | 64886895 | 64887081 | LOC100505782 | 193 | 334 | 17 | 39565582 | 39565720 | |
BG180332 | GLT25D1 | 1 | 203 | 19 | 17692507 | 17692709 | MTHFD1 | 196 | 672 | 14 | 64912837 | 64913313 | |
W27097 | MTHFD1 | 25 | 122 | 14 | 64915420 | 64915518 | MTHFD1 | 114 | 432 | 14 | 64915015 | 64915329 | |
BE707197 | MTHFD1 | 5 | 72 | 14 | 64905812 | 64905879 | UVRAG | 67 | 432 | 11 | 75852850 | 75853215 | |
AW581578 | PIGC | 9 | 124 | 1 | 172410948 | 172411063 | MTHFD1 | 107 | 304 | 14 | 64924985 | 64926633 | |
BG992574 | PRRC2C | 15 | 400 | 1 | 171561993 | 171562378 | MTHFD1 | 392 | 517 | 14 | 64915129 | 64915254 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   |   |   | 1 |   |   | 1 |   | 2 |   |   |   |   |   |   |   | 1 | |||
GAIN (# sample) |   |   |   |   |   |   |   |   | 1 |   |   |   |   |   |   |   | 1 | |||
LOSS (# sample) |   |   |   | 1 |   |   | 1 |   | 1 |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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Stat. for Non-Synonymous SNVs (# total SNVs=55) | (# total SNVs=13) |
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(# total SNVs=0) | (# total SNVs=0) |
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* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr14:64908845-64908845 | p.R653Q | 3 |
chr14:64892515-64892515 | p.N308T | 2 |
chr14:64886575-64886575 | p.E220G | 2 |
chr14:64902374-64902374 | p.I528V | 2 |
chr14:64921543-64921543 | p.D890N | 2 |
chr14:64898264-64898264 | p.L442L | 2 |
chr14:64914970-64914970 | p.L738F | 2 |
chr14:64921552-64921552 | p.A893T | 2 |
chr14:64898312-64898312 | p.A458A | 2 |
chr14:64884707-64884707 | p.T194P | 2 |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 3 | 5 |   | 12 | 1 |   | 2 |   | 4 | 1 |   | 1 | 6 | 2 |   | 1 | 10 | 4 | 2 | 9 |
# mutation | 3 | 5 |   | 12 | 1 |   | 2 |   | 4 | 1 |   | 1 | 6 | 2 |   | 1 | 11 | 4 | 2 | 9 |
nonsynonymous SNV | 2 | 4 |   | 9 | 1 |   | 1 |   | 3 | 1 |   | 1 | 5 | 2 |   | 1 | 7 | 3 | 2 | 6 |
synonymous SNV | 1 | 1 |   | 3 |   |   | 1 |   | 1 |   |   |   | 1 |   |   |   | 4 | 1 |   | 3 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr14:64886575 | p.S79C | 2 |
chr14:64898264 | p.E628D | 2 |
chr14:64879239 | p.L442L | 2 |
chr14:64908171 | p.E220G | 2 |
chr14:64855180 | p.T469T | 1 |
chr14:64898551 | p.S688S | 1 |
chr14:64921592 | p.V904V | 1 |
chr14:64882205 | p.V253L | 1 |
chr14:64908830 | p.F489Y | 1 |
chr14:64894152 | p.P692R | 1 |
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* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for MTHFD1 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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AMD1,ANKS6,CDC20,CTPS1,EXO5,COLGALT1,HMGA1, IFRD1,MPP6,MTHFD1L,NIP7,NUP93,PABPC4,PLEKHG1, PPP1R14C,PSAT1,TBPL1,ULBP1,YARS,YBX1,ZFP69B | ADORA3,C1RL,CASP4,EXOG,FAM20A,FAM57A,IFI16, LOC541471,LYN,MTHFD1L,MYD88,OSMR,RASSF2,SAMSN1, SELPLG,SLCO2B1,SULF2,TMEM173,TPM4,TUBA1B,UBASH3B | ||||
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CAD,CCDC86,CDCA5,CTPS1,EFTUD2,LMNB2,MCM4, MTHFD1L,NCAPD3,NCL,NLE1,NOLC1,POLR1A,SLC7A5, SSRP1,STC2,TCP1,TRAP1,XPO5,XPOT,YARS | CALR,CRELD2,DNAJC10,GARS,HM13,HSP90B1,HSPA5, HYOU1,IARS,IPO4,LRP8,MANF,MARS,MCM6, MTHFD1L,PDIA4,PKM,RUVBL1,SLC38A5,SRM,YARS |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Pharmacological Information for MTHFD1 |
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DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | P11586; -. |
Chemistry | ChEMBL | CHEMBL2541; -. |
Organism-specific databases | PharmGKB | PA31236; -. |
Organism-specific databases | CTD | 4522; -. |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00116 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | approved; nutraceutical | Tetrahydrofolic acid | ![]() | ![]() |
DB00157 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | approved; nutraceutical | NADH | ![]() | ![]() |
DB02358 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | experimental | LY374571 | ![]() | ![]() |
DB03461 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | experimental | 2'-Monophosphoadenosine 5'-Diphosphoribose | ![]() | ![]() |
DB04322 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | experimental | LY249543 | ![]() | ![]() |
DB00145 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | approved; nutraceutical | Glycine | ![]() | ![]() |
DB00133 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | approved; nutraceutical | L-Serine | ![]() | ![]() |
DB00158 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | approved; nutraceutical | Folic Acid | ![]() | ![]() |
DB00563 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | approved | Methotrexate | ![]() | ![]() |
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Cross referenced IDs for MTHFD1 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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